Canonical Allele Identifier: CA202342

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99691
• ClinVar RCV Id: RCV000086100 ; RCV000177190 ; RCV000277882 ; RCV000313062 ; RCV000370097 ; RCV003888493
• dbSNP Id: rs1801393
• ExAC: 11:61722627 G / C
• gnomAD v2: 11-61722627-G-C
• gnomAD v3: 11-61955155-G-C
• gnomAD v4: 11-61955155-G-C
• MyVariant Identifiers: chr11:g.61722627G>C (hg19) ; chr11:g.61955155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955155G>C , CM000673.2:g.61955155G>C	GRCh38
NC_000011.9:g.61722627G>C , CM000673.1:g.61722627G>C	GRCh37
NC_000011.8:g.61479203G>C	NCBI36
NG_009033.1:g.10272G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.201G>C MANE Select	ENSP00000367282.4:p.Leu67=
ENST00000378043.8:c.201G>C	ENSP00000367282.4:p.Leu67=
ENST00000449131.6:c.21G>C	ENSP00000399709.2:p.Leu7=
ENST00000524877.5:n.117G>C
ENST00000524926.5:c.201G>C	ENSP00000432681.1:p.Leu67=
ENST00000529265.5:n.124G>C
ENST00000533521.5:n.309G>C
ENST00000534553.5:c.-163G>C	ENSP00000431189.1:n.-163G>C
NM_001139443.1:c.21G>C	NP_001132915.1:p.Leu7=
NM_001300786.1:c.21G>C	NP_001287715.1:p.Leu7=
NM_001300787.1:c.21G>C	NP_001287716.1:p.Leu7=
NM_004183.3:c.201G>C	NP_004174.1:p.Leu67=
XM_005274210.2:c.201G>C	XP_005274267.1:p.Leu67=
XM_005274216.2:c.21G>C	XP_005274273.1:p.Leu7=
XM_005274218.3:c.-163G>C	XP_005274275.1:n.-163G>C
XM_005274219.2:c.201G>C	XP_005274276.1:p.Leu67=
XM_005274221.2:c.201G>C	XP_005274278.1:p.Leu67=
XM_011545229.1:c.201G>C	XP_011543531.1:p.Leu67=
XM_011545230.1:c.108G>C	XP_011543532.1:p.Leu36=
XM_011545231.1:c.-163G>C	XP_011543533.1:n.-163G>C
XM_011545232.1:c.201G>C	XP_011543534.1:p.Leu67=
NM_001363591.1:c.-304G>C	NP_001350520.1:n.-304G>C
NM_001363592.1:c.201G>C	NP_001350521.1:p.Leu67=
NM_001363593.1:c.-1161G>C	NP_001350522.1:n.-1161G>C
NR_134580.1:n.781G>C
XM_005274210.4:c.201G>C	XP_005274267.1:p.Leu67=
XM_005274215.4:c.-304G>C	XP_005274272.1:n.-304G>C
XM_005274216.4:c.21G>C	XP_005274273.1:p.Leu7=
XM_005274219.4:c.201G>C	XP_005274276.1:p.Leu67=
XM_005274221.4:c.201G>C	XP_005274278.1:p.Leu67=
XM_011545229.3:c.201G>C	XP_011543531.1:p.Leu67=
XM_011545230.3:c.108G>C	XP_011543532.1:p.Leu36=
XM_017018230.2:c.-304G>C	XP_016873719.1:n.-304G>C
XR_001747952.2:n.699G>C
XR_001747953.2:n.891G>C
XR_001747954.2:n.891G>C
XR_002957249.1:n.2583C>G
NM_004183.4:c.201G>C MANE Select	NP_004174.1:p.Leu67=
NM_001139443.2:c.21G>C	NP_001132915.1:p.Leu7=
NM_001300786.2:c.21G>C	NP_001287715.1:p.Leu7=
NM_001300787.2:c.21G>C	NP_001287716.1:p.Leu7=
NR_134580.2:n.314G>C